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Aliases for CSMD1 Gene

Aliases for CSMD1 Gene

  • CUB And Sushi Multiple Domains 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 24 3
  • CUB And Sushi Multiple Domains Protein 1 4
  • Protein Phosphatase 1 2
  • Regulatory Subunit 24 2
  • KIAA1890 4
  • PPP1R24 3

External Ids for CSMD1 Gene

Previous GeneCards Identifiers for CSMD1 Gene

  • GC08M002642
  • GC08M002783
  • GC08M002785
  • GC08M002786

Summaries for CSMD1 Gene

GeneCards Summary for CSMD1 Gene

CSMD1 (CUB And Sushi Multiple Domains 1) is a Protein Coding gene. Diseases associated with CSMD1 include Benign Adult Familial Myoclonic Epilepsy and Smallpox. An important paralog of this gene is CSMD3.

UniProtKB/Swiss-Prot for CSMD1 Gene

  • Potential suppressor of squamous cell carcinomas.

Gene Wiki entry for CSMD1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSMD1 Gene

Genomics for CSMD1 Gene

Regulatory Elements for CSMD1 Gene

Enhancers for CSMD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CSMD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CSMD1 Gene

Chromosome:
8
Start:
2,935,353 bp from pter
End:
4,994,972 bp from pter
Size:
2,059,620 bases
Orientation:
Minus strand

Genomic View for CSMD1 Gene

Genes around CSMD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSMD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSMD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSMD1 Gene

Proteins for CSMD1 Gene

  • Protein details for CSMD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PZ7-CSMD1_HUMAN
    Recommended name:
    CUB and sushi domain-containing protein 1
    Protein Accession:
    Q96PZ7
    Secondary Accessions:
    • Q0H0J5
    • Q96QU9
    • Q96RM4

    Protein attributes for CSMD1 Gene

    Size:
    3565 amino acids
    Molecular mass:
    388869 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • CSMD1 may be a candidate for oral and oropharyngeal squamous cell carcinomas (OSCCs). PubMed:12696061 and PubMed:14506705 are however in disagreement: while PubMed:14506705 considers CSMD1 as a strong candidate for OSCCs, PubMed:12696061 thinks it is not.
    SequenceCaution:
    • Sequence=AAQ88541.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CSMD1 Gene

    Alternative splice isoforms for CSMD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSMD1 Gene

Proteomics data for CSMD1 Gene at MOPED

Post-translational modifications for CSMD1 Gene

  • Glycosylation at Asn 40, Asn 57, Asn 588, Asn 687, Asn 956, Asn 1016, Asn 1035, Asn 1185, Asn 1198, Asn 1400, Asn 1455, Asn 1573, Asn 1645, Asn 1793, Asn 1806, Asn 1883, Asn 2019, Asn 2150, Asn 2155, Asn 2188, Asn 2359, Asn 2395, Asn 2401, Asn 2446, Asn 2471, Asn 2504, Asn 2606, Asn 2751, Asn 2762, Asn 2796, Asn 2895, Asn 2964, Asn 3023, Asn 3057, Asn 3106, Asn 3229, Asn 3261, Asn 3340, Asn 3380, and Asn 3387
  • Modification sites at PhosphoSitePlus

Other Protein References for CSMD1 Gene

No data available for DME Specific Peptides for CSMD1 Gene

Domains & Families for CSMD1 Gene

Protein Domains for CSMD1 Gene

Suggested Antigen Peptide Sequences for CSMD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PZ7

UniProtKB/Swiss-Prot:

CSMD1_HUMAN :
  • Contains 14 CUB domains.
  • Belongs to the CSMD family.
Domain:
  • Contains 14 CUB domains.
  • Contains 28 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the CSMD family.
genes like me logo Genes that share domains with CSMD1: view

Function for CSMD1 Gene

Molecular function for CSMD1 Gene

UniProtKB/Swiss-Prot Function:
Potential suppressor of squamous cell carcinomas.
genes like me logo Genes that share phenotypes with CSMD1: view

Animal Models for CSMD1 Gene

MGI Knock Outs for CSMD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CSMD1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSMD1 Gene

Localization for CSMD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSMD1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSMD1 Gene COMPARTMENTS Subcellular localization image for CSMD1 gene
Compartment Confidence
plasma membrane 3
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for CSMD1 Gene

Pathways & Interactions for CSMD1 Gene

SuperPathways for CSMD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSMD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CSMD1 Gene

Drugs & Compounds for CSMD1 Gene

(1) Drugs for CSMD1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved Pharma Inhibition, Inhibitor 396
genes like me logo Genes that share compounds with CSMD1: view

Transcripts for CSMD1 Gene

Unigene Clusters for CSMD1 Gene

CUB and Sushi multiple domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CSMD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:

ExUns: 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63
SP1:
SP2: -
SP3: - -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CSMD1 Gene

GeneLoc Exon Structure for
CSMD1
ECgene alternative splicing isoforms for
CSMD1

Expression for CSMD1 Gene

mRNA expression in normal human tissues for CSMD1 Gene

mRNA differential expression in normal tissues according to GTEx for CSMD1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.7), Brain - Cortex (x6.5), Brain - Anterior cingulate cortex (BA24) (x5.8), and Brain - Nucleus accumbens (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for CSMD1 Gene

This gene is overexpressed in Oral epithelium (32.2), Fetal Brain (9.9), and Frontal cortex (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CSMD1 Gene



SOURCE GeneReport for Unigene cluster for CSMD1 Gene Hs.571466

mRNA Expression by UniProt/SwissProt for CSMD1 Gene

Q96PZ7-CSMD1_HUMAN
Tissue specificity: Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain.
genes like me logo Genes that share expression patterns with CSMD1: view

Protein tissue co-expression partners for CSMD1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CSMD1 Gene

Orthologs for CSMD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CSMD1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CSMD1 35
  • 85.62 (n)
  • 94.88 (a)
CSMD1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csmd1 35
  • 83.94 (n)
  • 93.49 (a)
Csmd1 16
Csmd1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CSMD1 35
  • 98.71 (n)
  • 98.9 (a)
CSMD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csmd1 35
  • 83.8 (n)
  • 93.57 (a)
cow
(Bos Taurus)
Mammalia CSMD1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CSMD1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSMD1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSMD1 35
  • 75.45 (n)
  • 83.31 (a)
CSMD1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSMD1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491216 35
  • 74.04 (n)
  • 81.9 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.17574 35
CSMD1 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10186 37
  • 25 (a)
fw 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea T07H6.5 37
  • 28 (a)
Species with no ortholog for CSMD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CSMD1 Gene

ENSEMBL:
Gene Tree for CSMD1 (if available)
TreeFam:
Gene Tree for CSMD1 (if available)

Paralogs for CSMD1 Gene

Paralogs for CSMD1 Gene

genes like me logo Genes that share paralogs with CSMD1: view

Variants for CSMD1 Gene

Sequence variations from dbSNP and Humsavar for CSMD1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs34079122 - 2,955,653(+) GATCC(A/C)CCTGC reference, synonymous-codon
rs6995799 - 3,142,586(+) CCAAT(C/G)ATGGG reference, missense
rs34337712 - 2,951,208(+) GCGGG(A/G/T)TGTCT reference, missense
rs11984691 - 2,942,574(+) AATGA(C/G/T)TGGAA reference, missense
rs2018526 -- 3,054,478(-) accac(A/G)tctgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CSMD1 Gene

Variant ID Type Subtype PubMed ID
nsv517808 CNV Gain 19592680
dgv7628n71 CNV Gain 21882294
dgv7630n71 CNV Gain 21882294
nsv831209 CNV Loss 17160897
nsv889883 CNV Gain 21882294
nsv889886 CNV Gain 21882294
nsv889887 CNV Gain 21882294
nsv889888 CNV Gain 21882294
nsv889889 CNV Gain 21882294
nsv889891 CNV Gain 21882294
nsv520737 CNV Gain 19592680
nsv831210 CNV Loss 17160897
nsv889892 CNV Gain 21882294
esv2736439 CNV Deletion 23290073
esv2736441 CNV Deletion 23290073
nsv396910 CNV Loss 16902084
esv2736442 CNV Deletion 23290073
nsv470170 CNV Loss 18288195
esv2671391 CNV Deletion 23128226
esv22870 CNV Loss 19812545
nsv515545 CNV Loss 19592680
nsv526570 CNV Gain 19592680
nsv398434 CNV Insertion 16902084
nsv889893 CNV Loss 21882294
nsv889894 CNV Gain 21882294
esv2736443 CNV Deletion 23290073
esv1004218 CNV Deletion 20482838
esv2736444 CNV Deletion 23290073
esv1071195 CNV Deletion 17803354
esv2736445 CNV Deletion 23290073
nsv397826 CNV Insertion 16902084
esv2736446 CNV Deletion 23290073
esv2736447 CNV Deletion 23290073
nsv397290 CNV Loss 16902084
esv2736448 CNV Deletion 23290073
nsv396552 CNV Loss 16902084
esv269914 CNV Insertion 20981092
esv2736449 CNV Deletion 23290073
esv1930361 CNV Deletion 18987734
esv2736450 CNV Deletion 23290073
nsv397068 CNV Loss 16902084
esv2736452 CNV Deletion 23290073
esv2736453 CNV Deletion 23290073
esv1080773 CNV Insertion 17803354
nsv465343 CNV Loss 19166990
nsv470171 CNV Loss 18288195
esv1325952 CNV Insertion 17803354
esv27182 CNV Gain 19812545
nsv520856 CNV Loss 19592680
esv24029 CNV Gain 19812545
nsv889895 CNV Loss 21882294
esv2396458 CNV Deletion 18987734
esv2147064 CNV Deletion 18987734
esv2736454 CNV Deletion 23290073
nsv889896 CNV Gain 21882294
esv275369 CNV Loss 21479260
esv2736455 CNV Deletion 23290073
nsv889897 CNV Gain 21882294
nsv525017 CNV Loss 19592680
esv2736456 CNV Deletion 23290073
esv2736457 CNV Deletion 23290073
esv3695 CNV Duplication 18987735
esv22127 CNV Gain 19812545
dgv1240e201 CNV Deletion 23290073
esv1007346 CNV Deletion 20482838
esv1427249 CNV Deletion 17803354
esv2736459 CNV Deletion 23290073
esv2736460 CNV Deletion 23290073
nsv889898 CNV Loss 21882294
esv2736461 CNV Deletion 23290073
esv2736463 CNV Deletion 23290073
nsv824489 CNV Loss 20364138
esv2050334 CNV Deletion 18987734
dgv1166n67 CNV Gain 20364138
esv1608141 CNV Insertion 17803354
esv2621204 CNV Insertion 19546169
nsv465344 CNV Loss 19166990
esv275154 CNV Loss 21479260
nsv519649 CNV Loss 19592680
nsv6050 CNV Insertion 18451855
esv2666143 CNV Deletion 23128226
esv2736464 CNV Deletion 23290073
esv8471 CNV Loss 19470904
nsv465345 CNV Loss 19166990
nsv889899 CNV Loss 21882294
esv28911 CNV Loss 19812545
esv27958 CNV Gain 19812545
esv2671541 CNV Deletion 23128226
esv2736465 CNV Deletion 23290073
esv1166518 CNV Deletion 17803354
esv2736466 CNV Deletion 23290073
esv2736467 CNV Deletion 23290073
nsv525922 CNV Loss 19592680
dgv7631n71 CNV Loss 21882294
nsv465346 CNV Loss 19166990
nsv522726 CNV Loss 19592680
esv269294 CNV Insertion 20981092
nsv522274 CNV Loss 19592680
nsv889902 CNV Loss 21882294
nsv818577 CNV Loss 17921354
nsv523775 CNV Loss 19592680
nsv465347 CNV Loss 19166990
dgv856n27 CNV Loss 19166990
nsv397027 CNV Loss 16902084
nsv831211 CNV Gain 17160897
esv2736468 CNV Deletion 23290073
nsv465351 CNV Loss 19166990
esv1106075 CNV Insertion 17803354
esv2736469 CNV Deletion 23290073
esv1003798 CNV Deletion 20482838
nsv396871 CNV Loss 16902084
esv1661985 CNV Deletion 17803354
esv22958 CNV Gain 19812545
nsv889903 CNV Loss 21882294
dgv2177e1 CNV Complex 17122850
esv29406 CNV Gain 19812545
nsv6051 CNV Loss 18451855
esv29306 CNV Gain 19812545
nsv465352 CNV Loss 19166990
nsv889904 CNV Gain 21882294
esv2664065 CNV Deletion 23128226
esv2663390 CNV Deletion 23128226
esv2736470 CNV Deletion 23290073
nsv6052 CNV Insertion 18451855
dgv2178e1 CNV Complex 17122850
nsv519760 CNV Loss 19592680
nsv821655 CNV Gain 15273396
esv272976 CNV Insertion 20981092
esv267391 CNV Insertion 20981092
nsv397509 CNV Loss 16902084
nsv397194 CNV Loss 16902084
esv1491965 CNV Deletion 17803354
nsv398299 CNV Loss 16902084
esv2736471 CNV Deletion 23290073
esv2736472 CNV Deletion 23290073
nsv527376 CNV Loss 19592680
nsv8267 CNV Loss 18304495
esv2736475 CNV Deletion 23290073
esv2736476 CNV Deletion 23290073
esv2736477 CNV Deletion 23290073
esv1048775 CNV Insertion 17803354
nsv889905 CNV Loss 21882294
dgv7632n71 CNV Loss 21882294
nsv524848 CNV Loss 19592680
nsv889911 CNV Gain 21882294
nsv8268 CNV Gain+Loss 18304495
nsv465353 CNV Gain 19166990
nsv818579 CNV Gain 17921354
dgv242e55 CNV Gain 17911159
esv1558204 CNV Deletion 17803354
nsv522242 CNV Loss 19592680
nsv516222 CNV Loss 19592680
dgv7633n71 CNV Loss 21882294
nsv518942 CNV Loss 19592680
nsv518459 CNV Loss 19592680
nsv6053 CNV Loss 18451855
nsv507435 CNV Insertion 20534489
nsv525969 CNV Gain 19592680
dgv7634n71 CNV Loss 21882294
nsv522307 CNV Loss 19592680
nsv516708 CNV Loss 19592680
dgv7635n71 CNV Loss 21882294
esv2243457 CNV Deletion 18987734
esv2668306 CNV Deletion 23128226
nsv436589 CNV Deletion 17901297
esv24305 CNV Loss 19812545
nsv471725 CNV Loss 16327809
esv2736478 CNV Deletion 23290073
dgv1263e199 CNV Deletion 23128226
nsv499432 CNV Loss 21111241
nsv824492 CNV Loss 20364138
nsv514467 CNV Complex 21397061
esv2421967 CNV Deletion 20811451
dgv857n27 CNV Loss 19166990
nsv818580 CNV Loss 17921354
nsv442356 CNV CNV 18776908
dgv7636n71 CNV Gain 21882294
nsv465360 CNV Loss 19166990
nsv522390 CNV Gain 19592680
nsv889923 CNV Loss 21882294
nsv831212 CNV Gain 17160897
nsv824493 CNV Loss 20364138
esv26980 CNV Gain 19812545
nsv889924 CNV Gain 21882294
esv2752253 CNV Loss 17911159
nsv396883 CNV Loss 16902084
nsv522676 CNV Loss 19592680
nsv889925 CNV Loss 21882294
nsv516017 CNV Loss 19592680
esv2752254 CNV Loss 17911159
nsv889926 CNV Loss 21882294
esv2736479 CNV Deletion 23290073
esv2352774 CNV Deletion 18987734
nsv889927 CNV Gain 21882294
esv2668506 CNV Deletion 23128226
nsv889928 CNV Gain 21882294
nsv517894 CNV Loss 19592680
nsv889929 CNV Loss 21882294
dgv440n21 CNV Loss 19592680
nsv831213 CNV Loss 17160897
nsv519259 CNV Loss 19592680
nsv465363 CNV Gain 19166990
nsv526045 CNV Gain 19592680
essv6531 CNV CNV 17122850
esv2736480 CNV Deletion 23290073
esv2030318 CNV Deletion 18987734
nsv397564 CNV Loss 16902084
esv2736481 CNV Deletion 23290073
esv2678949 CNV Deletion 23128226
esv2736482 CNV Deletion 23290073
nsv889930 CNV Loss 21882294
essv8707 CNV CNV 17122850
nsv889931 CNV Loss 21882294
esv2659823 CNV Deletion 23128226
nsv515941 CNV Gain+Loss 19592680
nsv889932 CNV Gain 21882294
dgv2179e1 CNV Complex 17122850
esv34888 CNV Loss 17911159
nsv465364 CNV Loss 19166990
nsv889933 CNV Loss 21882294
essv7943 CNV CNV 17122850
dgv1167n67 CNV Loss 20364138
esv2665431 CNV Deletion 23128226
nsv471759 CNV Loss 16327809
nsv512024 CNV Loss 21212237
esv988088 CNV Gain 20482838
nsv824495 CNV Loss 20364138
esv6932 CNV Loss 19470904
esv26182 CNV Loss 19812545
dgv2180e1 CNV Complex 17122850
esv2657640 CNV Deletion 23128226
esv2421777 CNV Deletion 20811451
nsv470172 CNV Loss 18288195
dgv858n27 CNV Loss 19166990
nsv818581 CNV Loss 17921354
nsv438018 CNV Loss 16468122
dgv859n27 CNV Loss 19166990
nsv514468 CNV Complex 21397061
nsv442357 CNV CNV 18776908
esv2678471 CNV Deletion 23128226
nsv889934 CNV Loss 21882294
nsv818582 CNV Loss 17921354
nsv442084 CNV CNV 18776908
esv2424295 CNV Deletion 19546169
esv2135315 CNV Deletion 18987734
esv2659110 CNV Deletion 23128226
esv22235 CNV Loss 19812545
dgv7637n71 CNV Loss 21882294
esv2591750 CNV Insertion 19546169
nsv889936 CNV Loss 21882294
nsv889939 CNV Loss 21882294
nsv523605 CNV Loss 19592680
nsv818583 CNV Loss 17921354
nsv889940 CNV Gain 21882294
nsv824497 CNV Loss 20364138
nsv889941 CNV Loss 21882294
esv22770 CNV Loss 19812545
esv2664994 CNV Deletion 23128226
nsv438019 CNV Loss 16468122
esv2422512 CNV Deletion 17116639
esv2012564 CNV Deletion 18987734
nsv6055 CNV Loss 18451855
nsv889942 CNV Gain 21882294
dgv7638n71 CNV Loss 21882294
nsv889945 CNV Loss 21882294
esv2635862 CNV Insertion 19546169
esv1008691 CNV Deletion 20482838
nsv512025 CNV Loss 21212237
esv2736483 CNV Deletion 23290073
dgv1168n67 CNV Loss 20364138
nsv820514 CNV Deletion 20802225
nsv819774 CNV Gain 19587683
esv2670772 CNV Deletion 23128226
esv26084 CNV Gain 19812545
nsv522080 CNV Loss 19592680
nsv524875 CNV Gain 19592680
esv2667380 CNV Deletion 23128226
nsv437037 CNV Loss 16327808
esv2736484 CNV Deletion 23290073
esv2736486 CNV Deletion 23290073
nsv438020 CNV Loss 16468122
esv2676467 CNV Deletion 23128226
esv34054 CNV Loss 18971310
nsv824502 CNV Loss 20364138
nsv465374 CNV Loss 19166990
nsv889946 CNV Gain 21882294
nsv438021 CNV Loss 16468122
nsv465375 CNV Loss 19166990
nsv889947 CNV Loss 21882294
nsv519066 CNV Loss 19592680
esv2660844 CNV Deletion 23128226
esv2567044 CNV Deletion 19546169
esv1927553 CNV Deletion 18987734
esv4860 CNV Deletion 18987735
esv2736487 CNV Deletion 23290073
esv8079 CNV Loss 19470904
esv2665661 CNV Deletion 23128226
nsv396623 CNV Loss 16902084
esv997809 CNV Deletion 20482838
esv1201960 CNV Deletion 17803354
esv2752255 CNV Loss 17911159
nsv524196 CNV Loss 19592680
esv2736488 CNV Deletion 23290073
nsv889948 CNV Loss 21882294
essv15651 CNV CNV 17122850
nsv889949 CNV Gain 21882294
nsv465376 CNV Loss 19166990
nsv521522 CNV Loss 19592680
dgv7639n71 CNV Loss 21882294
nsv525809 CNV Loss 19592680
nsv522960 CNV Loss 19592680
esv34276 CNV Loss 17911159
nsv523545 CNV Loss 19592680
nsv465377 CNV Loss 19166990
dgv7640n71 CNV Loss 21882294
nsv398214 CNV Loss 16902084
esv2670050 CNV Deletion 23128226
nsv519564 CNV Loss 19592680
dgv7641n71 CNV Loss 21882294
nsv465379 CNV Loss 19166990
esv2674568 CNV Deletion 23128226
esv2736489 CNV Deletion 23290073
nsv465380 CNV Loss 19166990
nsv519316 CNV Loss 19592680
nsv521320 CNV Loss 19592680
esv2736490 CNV Deletion 23290073
esv5420 CNV Deletion 18987735
esv2055468 CNV Deletion 18987734
esv2736491 CNV Deletion 23290073
dgv240n6 CNV Loss 16902084
nsv889958 CNV Gain 21882294
nsv889959 CNV Loss 21882294
esv270542 CNV Insertion 20981092
dgv441n21 CNV Loss 19592680
nsv518401 CNV Loss 19592680
esv2736492 CNV Deletion 23290073
esv2736493 CNV Deletion 23290073
esv2246817 CNV Deletion 18987734
nsv889960 CNV Loss 21882294
nsv465382 CNV Loss 19166990
nsv465384 CNV Loss 19166990
nsv889961 CNV Gain 21882294
nsv528058 CNV Loss 19592680
esv26184 CNV Gain 19812545
nsv465385 CNV Loss 19166990
nsv437589 CNV Loss 16327808
esv987675 CNV Gain 20482838
esv2673279 CNV Deletion 23128226
esv272684 CNV Insertion 20981092
esv1316146 CNV Insertion 17803354
nsv889962 CNV Loss 21882294
esv2422279 CNV Deletion 17116639
nsv470173 CNV Loss 18288195
nsv465386 CNV Gain 19166990
nsv470174 CNV Gain 18288195
nsv465387 CNV Loss 19166990
nsv517334 CNV Loss 19592680
nsv465388 CNV Loss 19166990
dgv860n27 CNV Loss 19166990
esv34055 CNV Loss 18971310
nsv824503 CNV Loss 20364138
nsv831214 CNV Gain 17160897
dgv7642n71 CNV Loss 21882294
nsv527421 CNV Loss 19592680
esv2672163 CNV Deletion 23128226
nsv516820 CNV Loss 19592680
dgv7643n71 CNV Loss 21882294
nsv824504 CNV Loss 20364138
esv2736494 CNV Deletion 23290073
nsv465392 CNV Loss 19166990
nsv524149 CNV Loss 19592680
nsv516719 CNV Gain+Loss 19592680
nsv831216 CNV Gain 17160897
nsv889967 CNV Loss 21882294
nsv889968 CNV Gain 21882294
nsv438022 CNV Loss 16468122
esv2474620 CNV Deletion 19546169
nsv818584 CNV Gain+Loss 17921354
nsv819566 CNV Gain 19587683
essv12700 CNV CNV 17122850
essv11627 CNV CNV 17122850
dgv2181e1 CNV Complex 17122850
nsv437592 CNV Loss 16327808
nsv465393 CNV Loss 19166990
nsv442086 CNV CNV 18776908
dgv243e55 CNV Loss 17911159
esv2736495 CNV Deletion 23290073
nsv438023 CNV Loss 16468122
nsv465396 CNV Loss 19166990
nsv889969 CNV Loss 21882294
dgv7644n71 CNV Loss 21882294
nsv522399 CNV Loss 19592680
nsv889973 CNV Gain 21882294
nsv465397 CNV Loss 19166990
nsv516545 CNV Loss 19592680
essv19320 CNV CNV 17122850
nsv465398 CNV Loss 19166990
nsv465399 CNV Loss 19166990
nsv465400 CNV Loss 19166990
esv2264521 CNV Deletion 18987734
dgv7645n71 CNV Loss 21882294
nsv437593 CNV Loss 16327808
dgv2182e1 CNV Complex 17122850
nsv470175 CNV Loss 18288195
nsv818585 CNV Loss 17921354
nsv515524 CNV Loss 19592680
essv13967 CNV CNV 17122850
nsv442087 CNV CNV 18776908
nsv514469 CNV Complex 21397061
nsv438024 CNV Loss 16468122
nsv465401 CNV Loss 19166990
nsv889976 CNV Loss 21882294
esv2736497 CNV Deletion 23290073
nsv397789 CNV Insertion 16902084
esv25483 CNV Gain 19812545
nsv889977 CNV Gain+Loss 21882294
nsv523028 CNV Loss 19592680
nsv522042 CNV Loss 19592680
nsv524085 CNV Gain 19592680
nsv507436 CNV Insertion 20534489
esv268393 CNV Insertion 20981092

Variation tolerance for CSMD1 Gene

Residual Variation Intolerance Score: 0.169% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.21; 76.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSMD1 Gene

Human Gene Mutation Database (HGMD)
CSMD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSMD1 Gene

Disorders for CSMD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CSMD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
benign adult familial myoclonic epilepsy
  • adcme
smallpox
  • ordinary smallpox
- elite association - COSMIC cancer census association via MalaCards
Search CSMD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CSMD1

Genetic Association Database (GAD)
CSMD1
Human Genome Epidemiology (HuGE) Navigator
CSMD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSMD1
genes like me logo Genes that share disorders with CSMD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSMD1 Gene

Publications for CSMD1 Gene

  1. The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis. (PMID: 12696061) Toomes C. … Thakker N. (Genes Chromosomes Cancer 2003) 3 4 23 67
  2. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis M.C. … He K. (Hum. Mol. Genet. 2015) 3
  3. Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene. (PMID: 25456346) Nievergelt C.M. … Baker D.G. (Psychoneuroendocrinology 2015) 3
  4. TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives. (PMID: 25695618) Chittani M. … Barlassina C. (J. Hypertens. 2015) 3
  5. Loss of heterozygosity at D8S262: an early genetic event of hepatocarcinogenesis. (PMID: 26076954) Zhu Q. … Zhang W. (Diagn Pathol 2015) 3

Products for CSMD1 Gene

Sources for CSMD1 Gene

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